Genetic Variant NR_183730.1:n.280_281insAATGCACAGG (chr3-33798239-C-CCCTGTGCATT) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NR_183730.1(PDCD6IP-DT):n.280_281insAATGCACAGG variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 20)

Consequence

PDCD6IP-DT
NR_183730.1 non_coding_transcript_exon

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.47

Publications

0 publications found

Variant links:

Genes affected

PDCD6IP-DT (HGNC:55244): (PDCD6IP divergent transcript)

PDCD6IP-DT links:

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NR_183730.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PDCD6IP-DT	NR_183730.1		n.280_281insAATGCACAGG		non_coding_transcript_exon	Exon 1 of 2
	PDCD6IP-DT	NR_183731.1		n.125+155_125+156insAATGCACAGG		intron	N/A

Ensembl Transcripts

Gene	Transcript	HGVSc	Effect	Exon Rank
PDCD6IP-DT	ENST00000747835.1	n.8_9insAATGCACAGG	non_coding_transcript_exon	Exon 1 of 4
PDCD6IP-DT	ENST00000747836.1	n.7_8insAATGCACAGG	non_coding_transcript_exon	Exon 1 of 3
PDCD6IP-DT	ENST00000747840.1	n.790_791insAATGCACAGG	non_coding_transcript_exon	Exon 1 of 2

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

-1.5

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over